218600.1.2

Country

Lebanon
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004260.3:c.3056-2A>C1

Remarks

Father of patient 218600.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218600.1.1LebanonIntrauterine growth retardation; Absent thumb; Poikiloderma; Short stature; Abnormal facial shape; Motor delay; Failure to thrive; Poor appetite; Limb undergrowth; Hypoplasia of the radius; Hypoplasia of the ulna; Generalized bone demineralizationMaleNoYesParents are first-cousins
218600.1.3LebanonFemaleNoMother of patient 218600.1.1
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